GJA10 (Gap Junction Protein Alpha 10)
Connexin-62, a lens-specific gap junction protein involved in cataract formation
Gene Information Card
| Symbol | GJA10 |
|---|---|
| Full Name | Gap Junction Protein Alpha 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q15-q16 |
| NCBI Gene ID | 84694 ncbi.nlm.nih.gov/gene/84694 |
| Ensembl ID | ENSG00000135318 |
| UniProt ID | Q969M2 |
| OMIM ID | 611159 |
| HGNC ID | 4282 |
| Aliases | CX62, connexin-62, gap junction alpha-10 protein |
Description
GJA10 encodes connexin-62 (Cx62), a member of the connexin family of gap junction proteins. Connexins form hexameric hemichannels (connexons) that assemble into intercellular channels, mediating direct electrical and chemical communication between cells. GJA10 is specifically expressed in the lens of the eye, where it contributes to lens transparency and homeostasis. Mutations in GJA10 are associated with autosomal dominant congenital cataracts.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal dominant congenital cataract | Missense mutations disrupt gap junction assembly and intercellular communication in lens fibers, leading to opacification. | ClinVar; OMIM #611159 |
| Cataract 32, multiple types | Specific variants (e.g., p.Arg76Gly) impair protein trafficking and channel function. | ClinVar; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lens | 12.5 | High |
| Eye (whole) | 8.3 | Medium |
| Retina | 2.1 | Low |
| Brain | 0.5 | Not detected |
| Heart | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 0.2 | Low expression |
| HLE-B3 (human lens epithelial) | 15.8 | High expression |
| HeLa | 0.1 | Not detected |
| HEK293 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.226C>G (p.Arg76Gly) | Missense | Unknown | Dominant negative; disrupts connexon assembly |
| c.563G>A (p.Arg188Gln) | Missense | Unknown | Loss of function; impaired channel conductance |
| c.1A>G (p.Met1Val) | Start loss | Unknown | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
p.Met1Val abolishes translation initiation; p.Arg188Gln reduces channel conductance.
Gain of Function (GOF)
None reported.
Dominant Negative (DN)
p.Arg76Gly interferes with wild-type connexin-62 oligomerization.
View complete mutation data：
Gene Ontology (GO)
| • connexin complex (GO:0005922) | • cell communication (GO:0007154) |
| • gap junction channel activity (GO:0005243) | • plasma membrane (GO:0005886) |
| • lens development in camera-type eye (GO:0002088) |
Pathways
• Gap junction trafficking and assembly
• Intercellular communication in lens fibers
Protein Summary
Connexin-62 (Cx62) is a 62 kDa transmembrane protein with four alpha-helical domains, two extracellular loops, and a cytoplasmic C-terminus. It forms hexameric hemichannels that dock with adjacent cell hemichannels to create gap junction plaques. In the lens, Cx62 is essential for maintaining metabolic coupling and transparency. Structural mutations in the extracellular loops or transmembrane domains impair channel function and cause cataract.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GJA10 Knockout HEK293 Cell Line | EDJ-KQ10169 | Human | 84694 | Details Get a Quote |
| GJA10 Knockout HeLa Cell Line | EDJ-KQ57650 | Human | 84694 | Details Get a Quote |
| GJA10 Knockout A-549 Cell Line | EDJ-KQ66148 | Human | 84694 | Details Get a Quote |
| GJA10 Knockout HCT 116 Cell Line | EDJ-KQ74575 | Human | 84694 | Details Get a Quote |
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